Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397509430
rs397509430
HBB
3 0.882 0.200 11 5227101 5 prime UTR variant A/- del 0.010 1.000 1 2015 2015
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2007 2007
dbSNP: rs201739205
rs201739205
HSD17B1 ; LOC108783654
5 0.851 0.200 17 42552898 5 prime UTR variant A/C snv 7.8E-03 8.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs35036378
rs35036378
ESR2
5 0.851 0.200 14 64294403 5 prime UTR variant A/C snv 7.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs33980857
rs33980857
HBB
5 0.827 0.280 11 5227101 5 prime UTR variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.020 1.000 2 2013 2018
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.020 1.000 2 2011 2013
dbSNP: rs10941679
rs10941679 		11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs2981579
rs2981579
FGFR2
8 0.776 0.280 10 121577821 intron variant A/G snv 0.53 0.010 1.000 1 2011 2011
dbSNP: rs34166473
rs34166473
HBD
6 0.827 0.320 11 5234513 5 prime UTR variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs72661131
rs72661131
MBL2
15 0.742 0.480 10 52771739 upstream gene variant A/G snv 7.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs786203411
rs786203411
BRCA2
2 0.925 0.120 13 32398582 missense variant A/G snv 7.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs34104384
rs34104384
LEP
5 0.851 0.200 7 128241254 upstream gene variant A/T snv 8.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs549591993
rs549591993
F7
12 0.776 0.400 13 113105794 5 prime UTR variant C/A snv 4.0E-04 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2006 2006
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2014 2014
dbSNP: rs10895068
rs10895068
PGR ; PGR-AS1
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs137852573
rs137852573
AR
6 0.807 0.280 X 67686064 missense variant G/A snv 0.020 1.000 2 1997 1999
dbSNP: rs137852576
rs137852576
AR
5 0.827 0.240 X 67686067 missense variant G/A snv 0.020 1.000 2 1997 1999
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs200487063
rs200487063
LEP
5 0.851 0.200 7 128241246 upstream gene variant G/A snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs2046210
rs2046210 		21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs367732974
rs367732974
F7
9 0.790 0.360 13 113105788 5 prime UTR variant G/A snv 8.9E-05 2.8E-05 0.010 1.000 1 2015 2015